Synonyms: MRKH syndrome | Rokitansky syndrome
A rare spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2026
Newly diagnosed with
Mayer-Rokitansky-Küster-Hauser syndrome?
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Advocacy Organizations
Beautiful You MRKH Foundation, Inc.
The mission of the Beautiful You MRKH Foundation is to create a supportive community that partners with health care professionals to increase awareness and empower women of all ages with MRKH to feel beautiful, just as they are.
Uganda Alliance of Patients Organization
Supporting patients to access quality, safe and patient-centered healthcare services.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.